Optical Genome Mapping Shows Promise in Pediatric Brain Tumor Diagnosis
核心洞察
Lurie Children's Hospital is developing an optical genome mapping (OGM) test to improve the diagnosis and treatment of pediatric brain tumors (搜索).
The study, backed by a $3.7 million NCI grant, aims to identify structural variations in tumor DNA that current tests may miss.
Preliminary data suggests OGM could reveal clinically relevant structural variants in about 30% of brain tumors (搜索) with negative genetic testing.
A new study is set to explore the use of optical genome mapping (OGM) to enhance the diagnosis and treatment of brain tumors (搜索), potentially uncovering new drug targets. Preliminary data indicates that approximately 30% of brain tumors exhibit structural variations detectable through OGM.
Ann & Robert H. Lurie Children’s Hospital (搜索) of Chicago has been awarded $3.7 million through the National Cancer Institute Cancer Moonshot Scholars program to advance precision diagnosis of brain tumors (搜索) in children. The hospital aims to implement this clinical test within five years.
Detecting Structural Variants
Miriam Bornhorst, MD, a neuro-oncologist at Lurie Children’s and associate professor of pediatrics at Northwestern University Feinberg School of Medicine, explained, "We will use optical genome mapping for molecular diagnosis of brain tumors (搜索), which is a new application of this technology specifically designed to detect structural variants, meaning large changes within the single long strands of DNA that affect function."
OGM detects structural variations by linearizing and imaging DNA using massively parallel nano-channels, producing some of the longest read lengths in genomic research.
Improving Diagnostic Accuracy
"Currently, the genomic testing performed on brain tumors (搜索) focuses on small changes within individual genes. Adding the new test will inform us about larger changes to the whole gene and the genes that surround it. This will allow us to receive more robust test results so that we can initiate treatment earlier and do so with greater precision," Bornhorst stated.
According to Bornhorst’s preliminary data, around 30% of patients with negative clinical genetic testing had a potentially clinically important structural variant identified on OGM. The study will include analysis of at least 1,500 brain tumor samples over five years. Approximately 200 samples will be analyzed in "real time" to determine how well this method works as a clinical test, while the other samples will be analyzed to discover new structural variant patterns in pediatric brain tumors (搜索).
Identifying New Treatment Targets
"We hope to discover novel structural variants and characterize them based on tumor type, which could help us understand why some brain tumors (搜索) are more difficult to treat, or why some of these tumors don’t respond to treatment," said Bornhorst. "Our work also might identify new targets for treatment. This is an exciting path forward that could transform care of pediatric brain tumors and hopefully lead to improved outcomes."
It is estimated that 350,000 brain tumors (搜索) occur worldwide each year. These tumors are particularly challenging to treat due to various factors, including their location and the blood-brain barrier.